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Giulia Pascolini

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Minerva Pediatrica|April 14, 2018
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutationGiulia Pascolini, Michele Valiante, Silvia Majore, et al.
Children (Basel, Switzerland)|November 27, 2024
Broadening the <i>PHIP</i>-Associated Neurodevelopmental PhenotypeGiulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, et al.
Journal of Human Genetics|February 22, 2023
Facial clues to the photosensitive trichothiodystrophy phenotype in childhoodGiulia Pascolini, Federica Gaudioso, Marina Baldi, et al.
Journal of Molecular Neuroscience : MN|July 6, 2021
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 PerturbationGiulia Pascolini, Federica Gaudioso, Chiara Passarelli, et al.
Case Reports in Dermatology|July 16, 2025
Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case ReportGianluca Gizzi, Dario Didona, Giulia Pascolini, et al.
Clinical Genetics|December 29, 2021
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFBGiulia Pascolini, Chiara Passarelli, Martina Lipari, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasiaMarco Castori, Giulia Pascolini, Valentina Parisi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 13, 2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplicationGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A|May 3, 2020
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observationsGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Clinical Genetics|April 26, 2024
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variantMaria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, et al.
Pageof 4

Showing results (21-30 of 40) with videos related to

Sort By:
Pageof 4
Minerva Pediatrica|April 14, 2018
Incidental finding of an Xq microdeletion in a girl with trichorhinophalangeal syndrome type I harboring a novel TRPS1 nonsense mutationGiulia Pascolini, Michele Valiante, Silvia Majore, et al.
Children (Basel, Switzerland)|November 27, 2024
Broadening the <i>PHIP</i>-Associated Neurodevelopmental PhenotypeGiulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, et al.
Journal of Human Genetics|February 22, 2023
Facial clues to the photosensitive trichothiodystrophy phenotype in childhoodGiulia Pascolini, Federica Gaudioso, Marina Baldi, et al.
Journal of Molecular Neuroscience : MN|July 6, 2021
Clinical and Molecular Aspects of the Neurodevelopmental Disorder Associated with PAK3 PerturbationGiulia Pascolini, Federica Gaudioso, Chiara Passarelli, et al.
Case Reports in Dermatology|July 16, 2025
Keratitis, Ichthyosis, and Deafness Syndrome with Endocarditis and Myelitis: A Rare Case ReportGianluca Gizzi, Dario Didona, Giulia Pascolini, et al.
Clinical Genetics|December 29, 2021
Duane retraction syndrome characterized by inner ear agenesis and neurodevelopmental phenotype in an Italian family with a variant in MAFBGiulia Pascolini, Chiara Passarelli, Martina Lipari, et al.
American Journal of Medical Genetics. Part A|February 25, 2015
Microcephaly, ectodermal dysplasia, multiple skeletal anomalies and distinctive facial appearance: delineation of cerebro-dermato-osseous-dysplasiaMarco Castori, Giulia Pascolini, Valentina Parisi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 13, 2020
Further delineation of the neurodevelopmental phenotypic spectrum associated to 14q11.2 microduplicationGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
American Journal of Medical Genetics. Part A|May 3, 2020
A novel patient with White-Sutton syndrome refines the mutational and clinical repertoire of the POGZ-related phenotype and suggests further observationsGiulia Pascolini, Emanuele Agolini, Nicole Fleischer, et al.
Clinical Genetics|April 26, 2024
Usmani-Riazuddin syndrome can have a recognizable phenotype: Report of a novel AP1G1 variantMaria Gnazzo, Giulia Pascolini, Giovanni Parlapiano, et al.
Pageof 4